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This gene encodes a member of the short-chain dehydrogenase/reductase family. The encoded protein catalyzes the reduction of all-trans-retinal to all-trans-retinol, the first reaction step of the rhodopsin regeneration pathway. This enzymatic reaction is the rate-limiting step in the visual cycle. [provided by RefSeq, Feb 2014]
RDH8 (Retinol Dehydrogenase 8) is a Protein Coding gene. Diseases associated with RDH8 include Visual Impairment And Progressive Phthisis Bulbi and Myopia. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and estradiol 17-beta-dehydrogenase activity. An important paralog of this gene is DHRS1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004303 | estradiol 17-beta-dehydrogenase activity | IEA | -- |
GO:0004745 | retinol dehydrogenase activity | IEA,TAS | 10753906 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0052650 | NADP-retinol dehydrogenase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005887 | integral component of plasma membrane | TAS | 10753906 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | the visual cycle I (vertebrates) | ||
2 | Metabolism | ||
3 | Drug metabolism - cytochrome P450 | ||
4 | Visual Cycle in Retinal Rods |
Visual Cycle in Retinal Rods
-
|
|
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006694 | steroid biosynthetic process | TAS | 10753906 |
GO:0006703 | estrogen biosynthetic process | IEA | -- |
GO:0007601 | visual perception | IEA | -- |
GO:0042572 | retinol metabolic process | IEA | -- |
GO:0050896 | response to stimulus | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Retinal |
|
116-31-4, 564-87-4 |
|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6a | · | 6b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||
SP3: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RDH8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RDH8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RDH8 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rdh8 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rdh8 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RDH8 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | LOC100858293 30 |
|
||
RDH8 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | RDH8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100491569 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC556557 30 |
|
||
rdh8b 31 |
|
OneToMany | |||
rdh8a 31 |
|
OneToMany | |||
zgc73081 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | sro 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6045 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715543 | Likely Benign: not provided | 10,020,730(+) | A/T | MISSENSE_VARIANT | |
783821 | Benign: not provided | 10,013,577(+) | A/G | MISSENSE_VARIANT | |
783822 | Benign: not provided | 10,018,879(+) | C/T | SYNONYMOUS_VARIANT | |
785606 | Benign: not provided | 10,017,190(+) | T/C | SYNONYMOUS_VARIANT | |
791350 | Benign: not provided | 10,021,730(+) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
visual impairment and progressive phthisis bulbi |
|
|
myopia |
|
|
bothnia retinal dystrophy |
|
|
retina lymphoma |
|
|
macular degeneration, age-related, 1 |
|
|